Alimerka Oviedo Basketball donates €946.50 to the Isabel Gemio Foundation for research into rare diseases and muscular dystrophies 

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Alimerka Oviedo Basketball has managed to raise €946.50 from sales of their special edition game shirts and help from the city. The design, carried out by Marcos García, founder of the Basiliscus & Cía collective, includes the ‘Paisanu’ and Santa María, a profile of the city’s Cathedral, or the facade of the Town Hall.


“I wanted to include the Oviedo skyline with the club’s corporate colors, blue and orange, as well as those of the sacavera, which is a recurring theme in my compositions. The idea came up of making limited edition designs for charity and I thought of the Isabel Gemio Foundation, which investigates muscular dystrophy”, explains García about the shirt.


The proceeds from the sales and also auctions of horseback riding lessons will go to our foundation for the investigation of muscular dystrophies and rare diseases.


Many thanks to Alimerka Oviedo Baloncesto and to all who have contributed!


Without you, it would not be possible.

Fundación Isabel Gemio attends the conference “Investigar es avanzar” organised by the CIBERER

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The Fundación Isabel Gemio’s team attended the 12th edition of the CIBERER Conference “Research is Progress”, held on 28 February on the occasion of World Rare Disease Day.

During the event, we heard the testimony of Gabriela, the only person in Spain affected by Huppke-Brendel syndrome, an ultra-rare disease of genetic origin caused by low levels of copper and which produces a severe delay in psychomotor development.

In relation to her case, several researchers explained the advances that have been made using animal models, highlighting the case of the zebrafish, a magnificent model in the search for diagnosis and therapies for rare diseases.

Fundación Isabel Gemio joins recognizing World Rare Disease Day

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Fundación Isabel Gemio is going to share a series of testimonials from the initiative YOUNG PEOPLE WITH RARE DISEASES: THE COURAGE OF FACING LA VIDA, co-financed by the Erasmus+ program of the European Union for World Day for Rare Diseases, which takes place on the last day of February.

Disseminating and giving visibility to the cases of these young people offers a constant example of improvement, while making society aware of the importance of science and research for these rare diseases. So often people affected with these conditions lack a proper diagnosis or treatment that allows them to live their lives normally.

Over the next few weeks, we will learn the stories of Olivia, Leticia, Cristina, Carolina, Sara, Alicia, and Mónica. Follow us on our networks, share, and join our mission.

Juan Valderrama collaborates again with Fundación Isabel Gemio

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On March 28, Juan Valderrama will recite the Diván del Tamarit poems at the Teatro Real in Madrid, coinciding with the 125th anniversary of the recital of poet Federico García Lorca. Valderrama also brings the great singer-songwriter from Granada, Carlos Cano, who puts music to poetic works in a masterful way, contributing his personality and experience in mixing musical traditions with new trends of the 21st century.

This unique and unreplicable concert will also host artists such as Ana Belén, Carmen Linares, Miguel Poveda, Diana Navarro, and Antonio Reyes.

Part of the proceeds will go to financing the research lines of the Fundación Isabel Gemio that seeks solutions to rare diseases and other muscular dystrophies.

Get your tickets at the following link.

Enjoy an unforgettable night and join a good cause!

Farmaindustria proposes twelve measures to improve access to new treatments for patients with rare diseases

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Improving access to new treatments for Spanish patients with rare diseases is an ever pressing issue. For this reason, Farmaindustria has launched Propuestas para la mejora del acceso de los pacientes a los medicamentos huérfanos. This new document proposes 12 specific measures to ensure that Spanish patients with rare diseases have the maximum amount of opportunities available for treatment, in line with those of other European countries. Already in 2022, the pharmaceutical industry proposed about twenty measures to improve access to new drugs.

“Patients with rare diseases cannot wait to have all the evidence to finance a medicine that already has a European authorization with a favorable benefit-risk balance,” says the director of Farmaindustria’s Access Department, Isabel Pineros. “The pharmaceutical industry is willing to take some of the risk involved in evaluating and financing orphan drugs. It is time to assume that these drugs cannot be tested as those indicated for frequent pathologies ”, she adds.

To speed up the arrival of these drugs the industry has proposed that an early dialogue be established with the Administration once the drug has received a favorable report from the EMA. It is then crucial to speed up procedures so that the evaluation and financing do not exceed three months and the therapeutic positioning reports do not exceed 60 days.

SOURCE: Farmaindustria

Second transnational meeting of the Erasmus+ THE VALUE OF FACING SCHOOL

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On January 23rd, 2023, we held in Barcelona the 2nd transnational meeting of the Erasmus+ THE VALUE OF FACING SCHOOL. The partnership met to analyse the development of the intellectual outputs and to plan the following dissemination and evaluation activities of the project.

During the meeting, Fundación Isabel Gemio and Universidade de Évora presented the progress they have made with the methodological guide INCLUSION AND EQUITY IN SCHOOL. Some of the learning inclusive methodologies that this intellectual output will explain are learning through project and universal learning design and gamification. In order to offer a general overview of topics such as inclusivity and accessibility, the partnership will also portrait the legal framework for parental participation in inclusive education.

In the second half of the meeting, every entity described the Open Educational Resources they have developed. This second intellectual output of the project will include, questionnaires, books, list of recommendations, role-plays, and many other activities that will help teachers, students, and parents to enhance the environment of the classroom and to get the most out of blended learning.

All the intellectual outputs and the activities carried out by the Erasmus+ project THE VALUE OF FACING SCHOOL, co-funded by the European Union, will be available on the web platform of the project, that will be available soon. Follow us on social media and don’t miss anything.

Fourth and final transnational meeting of the Erasmus+ YOUNG PEOPLE WITH RARE DISEASES: THE VALUE OF FACING LIFE

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The Erasmus+ YOUNG PEOPLE WITH RARE DISEASES held its 4th and final transnational meeting in Barcelona on January 23rd. The partnership discussed the results and analysed the all the activities carried out within the project.

The initiative YOUTH WITH COURAGE has shared a total of 28 videos with the testimonies of young people affected by rare diseases and muscular dystrophies. Fundación Isabel Gemio, as coordinator of the Project, presented the final report analysing the impact on social media. The videos got more than 10k views in total on the different social media profiles of the initiative YOUTH WITH COURAGE (Instagram, Youtube, Facebook and Twitter). Besides, all the posts related to the project amounted to more than 9k impressions.

From the evaluation questionnaire developed by the partnership to analyse the impact of the project we have drawn the following conclusions:

  • All the respondents agree that this kind of initiatives benefits people suffering from rare diseases. They also affirm that they have learnt values such as courage and empathy, the importance of research and how to overcome difficulties while watching the videos.
  • As to the question concerning inclusiveness, they point out that it is important to carried out similar initiatives to YOUTH WITH COURAGE to continue raising awareness among society. Also, they consider that it is necessary to increase the funding and training of society regarding rare diseases.

During the meeting, it was agreed to prepare a 2nd newsletter to inform organizations and institutions of the results of the second half of the project. It was also agreed to gather all the information of the project in a brief guide that will be available soon.

All the organizations involved in the project (Fundación Isabel Gemio, Federación ASEM, UNIAMO, Parent Project APS y CMT-France) would like to thank the protagonists of the initiative YOUTH WITH COURAGE for their willingness and collaboration. During these months, we have learned about their lives, their diseases, their friends and families, their biggest obstacles and their biggest dreams. Moreover, they have set an example to young people and society with their value to face life. We would also like to thank Perez Llorca law firm for welcoming us and for their amiability, and all the people that have supported us in the different stages of the project.

Ultimately, the partnership concluded that the project has been a very positive and enriching experience for all the organizations, and it committed to continue working as a team in similar initiatives. The project YOUNG PEOPLE WITH RARE DISEASES: THE VALUE OF FACING LIFE is co-funded by the Erasmus+ programme of the European Union.

Fundación Isabel Gemio recognized as social entity invite to Casa Decor 2023

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The 2023 Casa Decor will open its doors to the Fundación Isabel Gemio as the guest social invite. During the exhibition (April 13 to May 28) different events will be organized in the common rooms of Serrano 92 to support and give visibility to the great work done by this non-profit organization: promoting and financing scientific research into muscular dystrophies and other rare diseases, in addition to promoting the exchange of information between experts, patients, and their families, and supporting the development of pharmacology.

What is a rare disease?

According to the definition of the European Union, rare diseases, including those of genetic origin, are those with a risk of death or chronic disability, which have a low frequency or prevalence (less than 5 cases per 10,000 inhabitants). In Spain, there are more than three million people affected by lesser-known diseases and anyone can be at risk of developing them.

Isabel Gemio, Isabel Gemio, president of the Foundation, with Dr. Vilchez’s research team at Hospital La Fe in
Valencia.

The research goals of the Fundación Isabel Gemio are directed by prestigiously recognized professionals within CIBERER, the Central Network for Biomedical Research on Rare Diseases, and with the support of its scientific committee and the active collaboration of the CSIC. Photo: Lucas Vasques on Unsplash.

En 2016, In 2016, Dr. Margarita Salas and Isabel Gemio signed a collaboration agreement between the Severo Ochoa Foundation and the Isabel Gemio Foundation at the headquarters of the Severo Ochoa Molecular Biology Center to promote scientific research in hereditary metabolic diseases in their capacity as presidents of both Foundations. With this agreement, a new line of research opened in the projects financed by the Isabel Gemio oundation. One notable project birthed from this agreement has been «Bases moleculares de enfermedades neurometabólicas y desarrollo de terapias específicas de mutación», carried out by Dr. Belén Pérez González, as principal investigator, at the Severo Ochoa Molecular Biology Center (CBMSO) and the Disease Diagnostic Center Molecular (CEDEM).

Research and knowledge

The Isabel Gemio Foundation was created in 2008 with the aim of financing and promoting scientific research projects studying rare diseases, as well as training researchers and medical professionals to offer accurate diagnoses. In addition, it proposes integrating tools that increase the efficiency of treatments. Among them, the creation of new laboratories, or the improvement or adaptation of existing ones, is a crucial aim (e.g. the development and maintenance of biobanks (banks for storing human biological samples for research) and the cataloging of diseases).

For the Foundation, it is very important to disseminate both research work and information of interest to affected patients and their families, the search for collaborations with other similar organizations, and, of course, care for those affected and their families.

Currently, thanks to the help of many people, the Isabel Gemio Foundation has 7 active lines of scientific research. These include “Autophagic/lysosomal dysfunction in neuromuscular diseases”, “Therapeutic approaches in muscular dystrophies through cell and animal models”, “Biology, physiopathology and therapy of skeletal muscle satellite cells”, “Development of clinical, genomic and bioinformatics applications to address rare diseases”, among others.

The direct and indirect benefits of the projects financed by the Isabel Gemio Foundation, given their wide spectrum of research, seek to achieve real clinical improvements with the treatments that affected people and their families can benefit from.

The people who matter: those affected and their families

Families and patients suffering from a rare disease live in a very different, distinct reality. The emotional impact of these conditions is very high, as the effects of these diseases usually cause immense disability and an extreme level of dependence on family members and / or caregivers. The economic impact that these diseases have in different areas is also enormous. These patients consume large amounts of health resources, since they need care by multidisciplinary teams in all phases of the disease. In advanced stages, the consumption of orthopedic material, wheelchairs, home assisted ventilation devices when necessary, or other products is very high.

This is the reality of their lives. The Isabel Gemio Foundation aims to raise awareness in society about these situations and seeks funding for research projects that are the only solution to change their lives and those of their families.

Any of us can suffer from a rare disease during our lives. This reality should occupy our minds and concern us for solidarity and justice.

On its tenth anniversary, the Isabel Gemio Foundation held a large charity party to raise funds for research into rare diseases. Under the motto “Estrellas por la Ciencia”, a grand gala was held in which the audience was able to enjoy performances by artists such as the Víctor Ullate ballet, Antonio Carmona, Cristina Toledo, María Toledo, Pasión Vega, and Miguel Poveda. A cocktail-dinner was then served coordinated by Mario Sandoval, Paco Roncero, Pepa Muñoz, Iván Muñoz, Óscar Velasco and José Carlos Fuentes, all with Michelin stars, who wanted to contribute to this cause by offering their best tapas.

Events

Since its founding fifteen years ago, the Isabel Gemio Foundation has held numerous charity events in order to raise funds for scientific research. In all of them, they have had the support in hundreds of events with friends and professionals who have decided to join this great project: to end neuromuscular diseases and other rare diseases.

For more information:
www.fundacionisabelgemio.com
info@fundacionisabelgemio.com
Tel.: +34 911 103 158

Conference to analyze the ‘Hoja de Ruta para las Enfermedades Raras’ document and initiative

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The Isabel Gemio Foundation has attended and collaborated in the conference held this morning to analyze the main points of interest of the document ‘Hoja de Ruta para las Enfermedades Raras’.

Published in 2021, the ‘Roadmap for Rare Diseases’ is a consensus document that identifies the main challenges of rare diseases and offers concrete solutions to improve the quality of life of patients.

PRESS: Feder / La Vanguardia

Scientists succeed in culturing mature neurons in laboratories to study neurodegenerative diseases

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Scientists from Instituto de Bioingeniería de Cataluña (IBEC) and Universidad de Barcelona (UB) have succeeded in creating the first highly mature neurons from human induced pluripotent stem cells (iPSCs) using a synthetic material, opening up new opportunities for medical research and potential therapies for neurodegenerative diseases and traumatic injuries.

The researchers believe that by advancing the age of neurons in cell cultures, experiments can be improved to better understand late-onset diseases. “Having mature neurons in the laboratory is essential to advance the understanding of neurodegenerative diseases, such as Alzheimer’s, Parkinson’s, or amyotrophic lateral sclerosis (ALS), and in the development of effective and safe therapies”, comments one of the authors, Alberto Ortega, Ramón y Cajal researcher at the UB.

The results are published in the journal Cell Stem Cell.

SOURCE: madri+d